Variant ID: 19-11222262-A-C


This variant was identified in 3 publications


Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.

Scientific Reports
U Galicia-Garcia, A Benito-Vicente, KB Uribe, S Jebari, A Larrea-Sebal, R Alonso-Estrada, J Aguilo-Arce, H Ostolaza, L Palacios, C Martin
Publication Date: 2020-02-03

Variant appearance in text: LDLR: Gln378Pro
PubMed Link: 32015373
Variant Present in the following documents:
  • Main text
View BVdb publication page

Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.

Plos Genetics
AS Thormaehlen, C Schuberth, HH Won, P Blattmann, B Joggerst-Thomalla, S Theiss, R Asselta, S Duga, PA Merlini, D Ardissino, ES Lander, S Gabriel, DJ Rader, GM Peloso, R Pepperkok, S Kathiresan, H Runz
Publication Date: 2015-02

Variant appearance in text: LDLR: Q378P
PubMed Link: 25647241
Variant Present in the following documents:
  • pgen.1004855.s008.docx
  • pgen.1004855.s013.docx
  • pgen.1004855.s014.docx
  • pgen.1004855.s018.docx
  • pgen.1004855.s019.xlsx
View BVdb publication page

Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study.

Bmc Medical Genetics
PJ Norsworthy, J Vandrovcova, ER Thomas, A Campbell, SM Kerr, J Biggs, L Game, AK Soutar, BH Smith, AF Dominiczak, DJ Porteous, AD Morris, G Scotland, TJ Aitman
Publication Date: 2014-06-23

Variant appearance in text: LDLR: 1133A>C; Gln378Pro
PubMed Link: 24956927
Variant Present in the following documents:
  • Main text
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.1388A>C p.Gln463Pro missense_variant 8/18 -
ENST00000455727.2 c.629A>C p.Gln210Pro missense_variant 6/16 -
ENST00000535915.1 c.1010A>C p.Gln337Pro missense_variant 7/17 -
ENST00000545707.1 c.752A>C p.Gln251Pro missense_variant 7/16 -
ENST00000557933.1 c.1133A>C p.Gln378Pro missense_variant 8/18 -
ENST00000558013.1 c.1133A>C p.Gln378Pro missense_variant 8/18 -
ENST00000558518.1 c.1133A>C p.Gln378Pro missense_variant 8/18 -
ENST00000560173.1 n.132A>C - non_coding_transcript_exon_variant 2/3 -
ENST00000560467.1 c.614A>C p.Gln205Pro missense_variant 4/6 -
NM_000527.5 c.1133A>C p.Gln378Pro missense_variant 8/18 -
NM_001195798.2 c.1133A>C p.Gln378Pro missense_variant 8/18 -
NM_001195799.2 c.1010A>C p.Gln337Pro missense_variant 7/17 -
NM_001195800.2 c.629A>C p.Gln210Pro missense_variant 6/16 -
NM_001195803.2 c.752A>C p.Gln251Pro missense_variant 7/16 -